Mutagenetix > Incidental Mutation

Incidental Mutation 'R8254:Ldc1'

640639

Institutional Source

Beutler Lab

Gene Symbol

Ldc1

Ensembl Gene

ENSMUSG00000023120

Gene Name

leucine decarboxylase 1

Synonyms

Gm853, LOC332942

MMRRC Submission

067680-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R8254 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130102902-130116194 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 130114136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 94 (A94S)

Ref Sequence

ENSEMBL: ENSMUSP00000023884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023884]

AlphaFold

Q3UNZ2

Predicted Effect

probably benign
Transcript: ENSMUST00000023884
AA Change: A94S

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000023884
Gene: ENSMUSG00000023120
AA Change: A94S

Domain	Start	End	E-Value	Type
Pfam:Orn_Arg_deC_N	56	294	3.6e-79	PFAM
Pfam:Orn_DAP_Arg_deC	263	410	4.3e-23	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (43/43)

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	T	C	4: 144,182,760 (GRCm39)	Y236C	probably benign	Het
Arhgef2	T	C	3: 88,549,910 (GRCm39)	L655P	probably damaging	Het
Brsk2	T	C	7: 141,538,153 (GRCm39)	S100P	probably damaging	Het
Calb1	A	G	4: 15,898,926 (GRCm39)	T141A	probably benign	Het
Cog6	T	C	3: 52,900,938 (GRCm39)	T447A	probably benign	Het
Cyp4f13	A	T	17: 33,148,907 (GRCm39)	N279K	probably benign	Het
Dnah11	T	C	12: 117,842,259 (GRCm39)	D4440G	possibly damaging	Het
Dspp	A	T	5: 104,323,194 (GRCm39)	E112D	possibly damaging	Het
Fam3c	T	A	6: 22,328,675 (GRCm39)	T71S	possibly damaging	Het
Fcgbpl1	T	C	7: 27,846,774 (GRCm39)	V1119A	possibly damaging	Het
Fdxr	C	A	11: 115,162,144 (GRCm39)	G188W	probably damaging	Het
Fndc5	T	C	4: 129,032,514 (GRCm39)	V39A	possibly damaging	Het
Gm14226	T	C	2: 154,866,646 (GRCm39)	I201T	possibly damaging	Het
Grip1	C	T	10: 119,890,810 (GRCm39)	Q950*	probably null	Het
Haspin	A	T	11: 73,027,572 (GRCm39)	Y506N	probably benign	Het
Itga2b	C	A	11: 102,358,212 (GRCm39)	R171L	probably benign	Het
Kctd2	C	T	11: 115,311,174 (GRCm39)	P61S	unknown	Het
Kirrel2	A	G	7: 30,149,801 (GRCm39)		probably null	Het
Lmx1b	A	G	2: 33,455,126 (GRCm39)	F310S		Het
Map4k4	A	T	1: 40,045,835 (GRCm39)	I574F	probably damaging	Het
Nrip1	T	C	16: 76,088,287 (GRCm39)	K1090R	probably benign	Het
Ntrk3	T	C	7: 77,842,326 (GRCm39)	Y820C	probably damaging	Het
Or5ac25	T	A	16: 59,182,534 (GRCm39)	I16L	probably benign	Het
Or5b96	T	C	19: 12,867,849 (GRCm39)	T31A	probably benign	Het
Pcdhb11	T	C	18: 37,555,242 (GRCm39)	Y191H	probably benign	Het
Pgm5	T	C	19: 24,705,089 (GRCm39)	K475E	probably benign	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Psd4	A	T	2: 24,293,223 (GRCm39)	D696V	probably damaging	Het
Rere	T	C	4: 150,697,129 (GRCm39)	F556L	unknown	Het
Sema4f	A	T	6: 82,894,382 (GRCm39)	C528S	probably damaging	Het
Sorcs2	A	G	5: 36,195,550 (GRCm39)	S680P	probably benign	Het
Sv2c	T	C	13: 96,225,073 (GRCm39)	T79A	probably damaging	Het
Tars3	A	G	7: 65,325,809 (GRCm39)	N461S	probably benign	Het
Thada	T	C	17: 84,533,468 (GRCm39)	N1661S	probably benign	Het
Tubd1	A	T	11: 86,440,264 (GRCm39)	Q96L	probably damaging	Het
Vmn2r72	T	C	7: 85,400,227 (GRCm39)	D274G	probably damaging	Het
Vps13d	A	T	4: 144,709,882 (GRCm39)		probably benign	Het
Vwce	C	A	19: 10,627,938 (GRCm39)	S466Y	probably damaging	Het
Wdr11	T	C	7: 129,236,560 (GRCm39)	I1178T	probably benign	Het
Zfp568	A	T	7: 29,714,558 (GRCm39)	H145L	probably benign	Het
Zfp606	T	C	7: 12,226,788 (GRCm39)	I303T	possibly damaging	Het
Zfp846	A	G	9: 20,504,587 (GRCm39)	D149G	probably benign	Het

Other mutations in Ldc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01111:Ldc1	APN	4	130,115,518 (GRCm39)	missense	probably benign	0.01
IGL01485:Ldc1	APN	4	130,109,218 (GRCm39)	missense	probably benign	0.02
1mM(1):Ldc1	UTSW	4	130,110,374 (GRCm39)	missense	probably benign	0.04
PIT4382001:Ldc1	UTSW	4	130,112,954 (GRCm39)	missense	possibly damaging	0.94
R0762:Ldc1	UTSW	4	130,115,417 (GRCm39)	missense	probably damaging	0.98
R0846:Ldc1	UTSW	4	130,115,417 (GRCm39)	missense	probably benign	0.10
R1070:Ldc1	UTSW	4	130,112,949 (GRCm39)	missense	probably benign	0.14
R1918:Ldc1	UTSW	4	130,105,186 (GRCm39)	missense	probably benign
R2117:Ldc1	UTSW	4	130,109,156 (GRCm39)	missense	possibly damaging	0.53
R2566:Ldc1	UTSW	4	130,103,681 (GRCm39)	missense	probably benign	0.14
R4110:Ldc1	UTSW	4	130,112,967 (GRCm39)	missense	probably damaging	0.99
R5033:Ldc1	UTSW	4	130,115,408 (GRCm39)	critical splice donor site	probably null
R5658:Ldc1	UTSW	4	130,114,234 (GRCm39)	missense	probably benign	0.00
R5751:Ldc1	UTSW	4	130,114,234 (GRCm39)	missense	probably benign	0.05
R6283:Ldc1	UTSW	4	130,115,534 (GRCm39)	missense	probably benign	0.00
R6993:Ldc1	UTSW	4	130,112,106 (GRCm39)	missense	probably damaging	1.00
R7224:Ldc1	UTSW	4	130,112,992 (GRCm39)	missense	probably damaging	1.00
R7773:Ldc1	UTSW	4	130,114,169 (GRCm39)	missense	probably damaging	1.00
R8329:Ldc1	UTSW	4	130,109,156 (GRCm39)	missense	possibly damaging	0.86
R8888:Ldc1	UTSW	4	130,105,223 (GRCm39)	missense	probably benign	0.09
R8895:Ldc1	UTSW	4	130,105,223 (GRCm39)	missense	probably benign	0.09
R9262:Ldc1	UTSW	4	130,114,153 (GRCm39)	missense	possibly damaging	0.48
R9680:Ldc1	UTSW	4	130,115,527 (GRCm39)	missense	probably benign
Z1176:Ldc1	UTSW	4	130,115,497 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGCCGACTGTAGCAATCTG -3'
(R):5'- TCATAAAGTGGAGAGGCCCTG -3'

Sequencing Primer
(F):5'- GAGTGAATTCTAACCTAGCCTGGAC -3'
(R):5'- AGAGGCCCTGAGGACCTAAC -3'

Posted On

2020-07-28